1ST-TRIMESTER PRENATAL-DIAGNOSIS OF TAY-SACHS DISEASE

  • 1 January 1984
    • journal article
    • research article
    • Vol. 36  (6) , 1369-1378
Abstract
The prenatal diagnosis of Tay-Sachs disease was made in 2 at-risk fetuses by the analysis of chorionic villi obtained at 9 and 11 menstrual weeks, respectively. The diagnoses were based on the absence of .beta.-hexosaminidase A activity as determined by: specific enzyme assays, anion-exchange chromatography and cellulose acetate gel electrophoresis. The enzymatic diagnoses were confirmed on fetal tissue as well as by ultrastructural demonstration of the 1st-trimester fetal neuropathology. Optimal assay conditions for .beta.-hexosaminidase A in chorionic villi were established for the prenatal diagnosis of Tay-Sachs disease. A small amount of decidua or maternal blood could lead to misdiagnosis. Extreme care must be taken in the preparation of chorionic villi for Tay-Sachs as well as other prenatal metabolic diagnoses.